Prevalence of thrombophilic conditions and genetic carrier status in neuroischaemic form of diabetic foot

Abstract

Diabetes mellitus a commonly encountered pathology in the whole world and has a tendency towards steady growth of morbidity and development of vascular complications. The presence of haemostatic disorders and genetic susceptibility to thrombosis in patients with diabetes mellitus increases the risk for the development of thrombotic complications. The purpose of the study was to determine the incidence rate of thrombophilic conditions (TC) and thrombosis-associated gene carrier status (TAGCS) in patients suffering from neuroischaemic form of diabetic foot. The study enrolled a total of 38 patients undergoing treatment at the Department of Vascular Surgery for critical ischaemia of lower limbs combined with diabetes mellitus during the period from 2016 to 2018. There were 29 (76.3%) men and 9 (23.7%) women. The mean age amounted to 58.9±7.3 years. The diagnosis of TC and TAGCS was made based on the study for the presence of the markers of antiphospholipid syndrome, level of homocysteine and antithrombin III, proteins C and S, as well as comprehensive genetic study in order to reveal gene polymorphisms (prothrombin, Leiden mutation, MTHFR gene, MTR gene and others). Based on the obtained findings we calculated the incidence rate of TC and TAGCS, as well as their combinations in the examined patients. In the studied group of patients we revealed various incidence of TC and TAGCS, and, most importantly, that of a combination of these conditions. All cases of thrombophilias were combined with TAGCS. Hyperhomocysteinemia was most commonly combined with the MTRR 66 A>G gene mutation, the presence of lupus anticoagulant - with PAI-1 675 5G>4G, whereas thrombophilic conditions - with MTRR 66 A>G and PAI-I - 675 5G>4G. Two patients were found to be carriers of the factor V Leiden mutation. The examined patients were diagnosed as having TC or TAGCS, as well as their combinations in one form or another, thus increasing the risk for the development of thromboses and embolisms in such patients.